HsaINT0108783 @ hg19
Intron Retention
Gene
ENSG00000197535 | MYO5A
Description
myosin VA (heavy chain 12, myoxin) [Source:HGNC Symbol;Acc:7602]
Coordinates
chr15:52609245-52611539:-
Coord C1 exon
chr15:52611257-52611539
Coord A exon
chr15:52609420-52611256
Coord C2 exon
chr15:52609245-52609419
Length
1837 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
GTATCTCTTTTTTTTCATAGGTA
3' ss Score
9.6
Exon sequences
Seq C1 exon
TCTCAGGCATGCTGGAACATGAAACGATTCAGGGCGTGTCTGGGGTGAAGCCCACAGGGTTGAGAAAGCGAACCTCCAGTATCGCCGATGAGGGCACCTACACACTGGACTCCATCCTCCGGCAGCTCAACTCCTTCCACTCGGTCATGTGTCAGCATGGCATGGACCCTGAACTGATCAAGCAGGTGGTCAAGCAGATGTTCTACATCATAGGGGCCATCACCCTGAACAACCTTCTCCTGCGGAAGGACATGTGCTCCTGGAGTAAAGGCATGCAGATCAG
Seq A exon
GTGAGCAAATGCCAACACCTGCGACAGTGTCTTTTTGCTGCCCAGCTGGCCTGCCAGGGTTGTGGAGAGCTGATGACTTGTTTTCAGTTCTTGCATCTCATGTCTGGTGCCATGTGGCCAAGCAGCAAGGGAGAAACTGGCACGGAGCCACTTTCCCTTGCCTGGCTGGATTTCACCACATCTCATTATTGCTCCCTGTCTGTACCCTGCCAACAGGTTCTTCACATTCTTGATAGGAAACCCTTTTCCACTGTGAAGCTTGCTTATTTGGGGGAGTGAAGAGATGATGCAAAAATACACAAAGATGAGATAGCTGCTTCCTCTCCTTATGTGTGTGTTTTAATTATACAATAAGAAATTATTAAATTATAATAATGAAGATTTCTAATGTTTGATTGCTCTTAGAAATATATTTTTGGAAAAATACCTTTTTGTACCTATGGCAACAAGAACAGGTCTGATAGATCTTTTACTAATTCTTAAAATATCCCCCCTCTATATTTTAAGAAAAGCTGCACTTAATTTTATGCCCAATACTCCTCAGCATAACCTCATTATTGTAACATAATTTTTTTGCAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTGGGCCACAAATTTTTTATTTTAAAACAGCTAGAATATTCACCAAGAGGAGGGAAAAATGATTTCTCCTATCAAAGTCTTAGTAGTTACTCAATCTCAGGAACTGTTAGTGTTCTTTTCAAATTTTCCATCCTGACTTACATTGAAGTGTAGTGAATTTTAAGACAATAATGCCTTCCTCTCAGATAGTGGAGCATATTTCTCTATAAGCTCTGCATGGAAATGTGGAGCCACCTGTCGCAATATTATGCTGGCCCCTATTTGCCTGGTTGCTAAGTGCTGATTGTGTGTCTATTGACCTCAGTCTTAGGACTGCTGCCACTTGGTTGGCTATTTTGTGAAACCTACAATGTCTTTGTAGTTTGTCTCTGTCACCATTTGGAGTCTTTGTCTCTTCCAGTGGCCCTCCCTTGCCTCTCTCTCCTTTCATCCCGGAGCTTTCTCAGGCCACCATCTTCATCTCCTAGGCTCTTCCCTTAAGGCTTCAGCACAGGTATATGTGGGGCTTTTGGTTATTCAGTTACCTGATTTGGAGTTTGCCTTAAGAGAGAGTGCTTCAAGGATTATCAAGTCTCACCCTGCAACAGCAACCCAGCTCTGAAATTGTAAGAGAAGCTACAAAGTGTTTTCTGGCCAGCTCCCCAATAAAGACAGAGCTACATTATGTTATTCTATTTTGTTTATTAGCAAGTCTAATAACTTTTGCCATAATGACTTCATTTCCATCTTCCATTAAAGAGAATTACATTATCTTGTCATTTAGTCTTATATAATGGTGATTATAATCCTCATGACTATAATAAATTTTTAAGCACAGCTGATGAGATTTAAGAAAATTGAACAAAAATACTGCCTGTCATTTTAACATAAATCCTGACAAGGCCGCACACAAAAAAATTAAGACATTTTTGACAAAATTCAGCAAATTTGCATTCTCTGTATCTCTTTTTTTTCATAG
Seq C2 exon
GTACAATGTCAGTCAACTGGAAGAATGGCTGCGTGACAAGAATCTGATGAATAGTGGGGCTAAAGAAACCCTGGAACCTCTCATTCAGGCTGCTCAACTTTTGCAAGTGAAAAAGAAAACAGATGATGATGCAGAAGCCATTTGTTCTATGTGCAATGCTTTAACTACTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197535-MYO5A:NM_000259:38
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0184314=DIL=PU(31.1=34.7)
A:
NA
C2:
PF0184314=DIL=FE(54.7=100),PF0146614=Skp1=PU(69.3=88.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAACGATTCAGGGCGTGTCT
R:
GCAGCCTGAATGAGAGGTTCC
Band lengths:
356-2193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)